Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
J. Clin. Invest. Masashi Akiyama, et al. 115:1777 doi:10.1172/JCI24834 [Go to this article.]

Figure 1
Clinical features of HI patients. (A) Patient 1 from family A harboring a homozygous mutation IVS23-2A→G in ABCA12. (B) Patient 2 from family B with compound heterozygous ABCA12 mutations, IVS23-2A→G and 5848C→T (R1950X). (C) Patient 3 (family C) carrying compound heterozygous ABCA12 mutations, 2021_2022del AA and 4158_4160delTAC (T1387del). (D) An affected fetus from family C aborted at 23 weeks’ gestation showed no serious symptoms, although some abnormal keratinization was observed mainly on the cheeks and the perioral area.